Almanac of Clinical MedicineAlmanac of Clinical Medicine2072-05052587-9294Moscow Regional Research and Clinical Institute (MONIKI)155110.18786/2072-0505-2021-49-069Research ArticleA clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 geneStadnikovaAntonina S.<p>MD, PhD, Dermatologist</p>tonya-st@yandex.ruhttps://orcid.org/0000-0003-3420-4442TamrazovaOlga B.<p>MD, PhD, Professor of Russ. Acad. Sci., Dermatologist; Professor, Chair of Dermatology and Venereology, Faculty of Continuing Medical Education</p>anait_tamrazova@mail.ruhttps://orcid.org/0000-0003-3261-6718ZakharovaIrina N.<p>MD, PhD, Professor, Head of Chair of Pediatrics named after Academician G.N. Speranskiy</p>zakharova-rmapo@yandex.ruhttps://orcid.org/0000-0003-4200-4598DmitrievaYulia A.<p>MD, PhD, Associate Professor, Chair of Pediatrics named after Academician G.N. Speranskiy</p>jadmitrieva@mail.ruhttps://orcid.org/0000-0003-0668-7336TaganovAlexey V.<p>MD, PhD, Professor, Chair of Dermatology and Venereology, Faculty of Continuing Medical Education</p>matis87177@yandex.ruhttps://orcid.org/0000-0001-5056-374XYudinaAnastasiya E.<p>Head of Department of Neonatology</p>yudina209@gmail.comhttps://orcid.org/0000-0002-6920-8024BagramovaGayane E.<p>MD, PhD, Professor, Chair of Dermatology and Venereology, Faculty of Continuing Medical Education</p>bagramovaga@mail.ruhttps://orcid.org/0000-0003-4615-7356Children's City Clinical Hospital named after Z.A. BashlyaevaPeoples' Friendship University of RussiaRussian Medical Academy of Continuous Professional Education241220214985715770110202119012022Copyright © 2021, Stadnikova A.S., Tamrazova O.B., Zakharova I.N., Dmitrieva Y.A., Taganov A.V., Yudina A.E., Bagramova G.E.2021<p>Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products, which makes it difficult to differentiate enteropathic acrodermatitis from allergic dermatoses. We describe a familial case of enteropathic acrodermatitis in a 4-month old girl with advanced skin lesions and diarrhea. The familial history positive for enteropathic dermatitis made it possible to immediately suspect this diagnosis in the patient and to administer a zinc sulfate-containing agent before the genetic test results have become available. The response to therapy was obtained within a few days. Genetic testing of the patient identified a new mutation in exon 10 of the SLC39A4 gene. Proper collection of the past history and physician's vigilance to zinc-deficient conditions in acral dermatitis combined with alopecia and diarrhea in infants would allow for a timely and proper diagnosis and choice of a subsequent management strategy.</p>genodermatosisenteropathic acrodermatitischildrenzinc deficiencySLC39A4 geneгенодерматозыэнтеропатический акродерматитдетидефицит цинкаген SLC39A4[Reyes MA, Eisen DB. Inherited syndromes. Dermatol Ther. 2010;23(6):606–642. doi: 10.1111/j.1529-8019.2010.01368.x.][Kharfi M, El Fékih N, Aounallah-Skhiri H, Schmitt S, Fazaa B, Küry S, Kamoun MR. Acrodermatitis enteropathica: a review of 29 Tunisian cases. Int J Dermatol. 2010;49(9):1038–1044. doi: 10.1111/j.1365-4632.2010.04566.x.][Ciampo IRLD, Sawamura R, Ciampo LAD, Fernandes MIM. Acrodermatitis enteropathica: clinical manifestations and pediatric diagnosis. 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